A REPORT ON A SURVEY
OF LATE EMERGING MANIFESTATIONS OF CONGENITAL RUBELLA SYNDROME
By Nancy O’Donnell,
HKNC, Coordinator of Special Projects
Since HKNC’s report
on CRS was published in 1991, the response from families, individuals with CRS and
professionals has been incredible. There was an obvious need for continuing
discussion on this topic. To that end:
1) The Helen Keller National Center maintains a listserv to facilitate
discussions among an international community of parents, consumers and
professionals interested in CRS. Individuals from countries such as
2)
3) DB-LINK, the
National Clearinghouse Information Clearinghouse for Children who are Deaf-Blind,
has an extensive bibliography of articles on CRS, with some articles available
in full text on the website. Go to www.dblink.org, “Selected Topics,” “Congenital
Rubella Syndrome.”
We continue to hear about late onset medical conditions developing in those
with CRS. Unfortunately, there has been little medical research conducted to
clinically determine a definitive link between congenital rubella syndrome and
the various medical conditions reported. Anecdotal reports of medical and
emotional issues surely convince us of the need for further clinical
investigation. Families and individuals living with CRS deserve answers to
their concerns so that they can manage their lives in a healthy and proactive
way. We implore the medical research community to renew their interest in, and
commitment to, finding answers about CRS.
As always, we
appreciate your feedback. We may not have all the answers, but we will continue
to seek them.
Nancy O'Donnell
Helen Keller National Center
STATEMENT OF THE PROBLEM
This report will discuss information on individuals with
deaf-blindness whose parents/caretakers responded to a survey regarding late
emerging manifestations of Congenital Rubella Syndrome (CRS). The survey was
conducted in response to concerns expressed by parents and service providers
who had observed dramatic changes in behavior and/or medical conditions in their
adult children/clients with CRS. There has been very little recent information
written about this phenomena, although late onset medical problems have been
documented, particularly in the Australian Rubella population bom in the 1940s. An excellent resource for parents and
professionals about CRS is the November 1980 edition of "American Annals
of the Deaf," Volume 125, No. 8. The entire volume is dedicated to the
topic of rubella. Although the information
is not current, it provides a comprehensive overview of the population and the
challenges they face. Other resource articles are listed at the end of this
report, in the bibliography.
PROCEDURE
The
survey was conducted in two phases. In Phase 1, which took place from November
1989 to April 1990, an interviewer contacted parents/caretakers by phone, asked
questions and filled out a survey form while talking with the parents. In Phase II, June 1990 to 1991, a large scale
mailing was conducted across the country.
The mailing list was composed of names received through parent
organizations, rehabilitation agencies, the Helen Keller network of Affiliated
Agencies, HKNC Regional Representatives and through word of mouth. Information was requested on each person's:
§
Residential
Placement
§
Employment
§
Hearing and
vision
§
Communication
methodology and opportunities to communicate
§
Increase or
decrease in negative behaviors
§
Changes in
lifestyle
§
Medical
conditions and age of onset
Most
of the questions were in a yes/no format or multiple choice with space for comments.
Our
goal was to gather information on individuals 16 years of age and older who
were reported to be deaf and blind as a result of CRS. During Phase I of our
effort, 39 interviews representing 19 states were completed by telephone. Much
of the information received during these interviews was anecdotal in nature.
Since
Phase II, we have received and analyzed 88 additional responses representing
another 14 states. The percentages reported herein are based on those 88
responses. However, the impressions,
quotations and interpretation of the data also reflect the wealth of
information gathered from the initial 39 interviews.
The
following report is divided into two main sections. Section I provides a general overview of the
respondents. Section II focuses on
medical information.
1. GENERAL
OVERVIEW OF RESPONDENTS
Fifty-eight
percent of the respondents were male, forty-two percent were female. The
largest percentage of respondents (32 %) fell into the 25-26 year old category,
reflecting individuals who were bom as a result of the rubella epidemic of the
1960s.
A. Residential Profile
· 41
% were reported to live with parents/family
· Almost
20% were in some type of group home
· I
I % live in MH/MR facilities (institutions, state hospitals)
· 9%
were in foster care
· 9
% were in an intermediate care facility
B. Employment Profile
· Approximately
32% work in a sheltered workshop or work activity center
* 27%
are students
· 20%
are in a training facility, including employment training
* 2
% are competitively employed
· 3%
are engaged in Supported Employment
·
Hearing & Vision
·
Almost 50%
reported little or no useable vision, while 30% have significant problems
·
Approximately
90% were considered to have no functional hearing
·
45% fell into
the category of profoundly deaf with no vision and another 28% were profoundly
deaf with significant vision problems
D. Communication
The
following percentages indicate a yes/no response to a particular method of
communication. It does not rate the capability of the individual in each
category. Respondents were allowed to
check as many methods as applied.
Receptive Methods
·
Out of a list
of ten possible methods for receiving communication, sign language was the most
frequently indicated (83%).
·
Gestures and
prompting were checked by 60% of the respondents.
·
One fourth of
the cases were reported to understand fingerspelling.
·
5 individuals
could read braille (6%).
·
3 individuals
were described as having no receptive method of communication (3%).
Expressive
Methods
·
Sign language
was the most common method of expressive communication (70%).
·
55% are
reported to use gestures.
·
11% use
speech, either alone or in combination with another method.
·
6 cases
reported no method of expressive communication (7%).
Opportunities
to Communicate
·
16% of the
respondents answered "no" when asked if there was someone in the
deafblind person's situation who could communicate effectively with that
person.
·
23% answered
"no" when asked the same question in response to their work
placement/day program.
E. Behaviors
Respondents were asked to indicate which out of 9 behaviors
were currently demonstrated by the deaf-blind person and whether the frequency
of these behaviors had increased, decreased or remained the same over the past
year.
·
Self-stimulation
and vocalization were the most commonly occurring "behavior
problems," often reported every day. Approximately 60 cases (68%) reported
that this behavior decreased over the past year.
·
Disruptive
activities were the next most frequently noted behaviors. Ten individuals (11%)
were reported to do this every day. Forty percent (40 %) are disruptive only
occasionally. Approximately one-third of the respondents are not disruptive at
all.
·
Tantrums/outbursts
were noted at least once a week in 35 % of the cases. This behavior occurred
occasionally in one-third of the individuals. Almost 20% did not demonstrate
this behavior at all. The frequency of this behavior was noted to have
decreased or remained the same in 60 cases (68%) over the past year.
·
Self-injurious
behavior was reported to occur at least once a week in 35% of the cases. 40 %
did not demonstrate this behavior. About 40 cases (45 %) indicated a decrease in
this behavior since the past year.
·
The most
serious demonstration of behavior problems (Damages Property and Assaults
Others) were reported to occur in 11 cases (12.5%) at least once/week.
Thirty-four (34 %) were assaultive occasionally; 28 % damaged property
occasionally. Approximately 50% did not demonstrate either behavior.
In general, there was
a definite trend in all behaviors decreasing or remaining the same over the
past year.
F. Lifestyle Changes
Individuals with CRS are frequently described as having
difficulty accepting changes in their routine/environment.Information was
requested on the number and types of changes that occurred during the past
year. The results were as follows:
·
27% - change in health
·
26% - change
in living arrangement
·
43% - change
in family/roommate/staff (residential)
·
33% - change
in work
·
36% - change
in staff/fellow employees
·
18% - change in transportation
Obviously, this is a group that experienced significant
changes in their environment.Many were involved in several changes over the
past year. What effect did these changes have on their behaviors, their
communication opportunities and their general quality of life? How can we plan
for more consistency, particularly in staffing patterns?
II.
MEDICAL CONDITIONS
I
would like to give special thanks to Barbara Fedun whose knowledge, patience
and expertise were cnitical in preparing this section.
This
section is divided into seven categories according to problems noted in the
following areas:
A) Auditory Disorders
B) Ocular Damage
C) Cardiac Problems
D) Endocrine System (Diabetes and Thyroid)
F) Degenerative Conditions
G) Esophageal/Gastrointestinal Symptoms
H) Miscellaneous
Each category will be introduced by information cited in
previous articles or studies. This will
be followed by our own findings, including comments, questions or impressions
from parents who participated in the survey.
A. AUDITORY DISORDERS
“Long Term follow-up
of these children indicates that almost all eventually show signs of some
neurologic damage, the most common being sensorineural hearing loss, which
approached 93% at seven to nine years of age.” (2)
“The most common handicap associated with rubella is hearing
loss which affects about 73% of the cases. The losses are generally bilateral
and sensorineural.” (1)
“…The hearing defect may become progressively worse after
the first year of life. There have also been cases in which children with CRS,
for whom audiograms nd speech patterns are normal suddently developo
mild-to-profound sensorineural hearing loss. The latest age at which this
occurrence has been well documented is ten years.” (4)
Ninety-two percent of our respondents in Phase II indicated
that their child had little or no hearing at the time of the survey. One case
of late onset hearing loss was reported at age 10. Another mother mentioned that her daughter
seems to not hear as well 'as the years go by." In Phase I, however,
several parents reported a decrease in their child's hearing. One case involved
a female, age 20, who also developed glaucoma at age 16 and hirsutism (increase
in facial hair, body hair) accompanied by an increase in weight and breast
size. Another case involved a male, age 25, who also was experiencing many
seizures, had developed glaucoma at age 20, had a detached retina repaired at
age 24 and had demonstrated "alot" of head banging. A third case
involved a young man, age 24, whose mother has noticed a decrease in hearing
over the past five years. This individual also has glaucoma.
An interesting case surfaced, however, during the telephone
survey I will leave it to you to come to your own conclusions:
One mother described a son with some useable vision and no
apparent hearing. At age 12, he lost his remaining vision. Soon after this, she
noticed that his hearing seemed to "kick in." He began responding to
environmental cues and directions. At the time of this survey, he was 23 years
old and his primary means of receiving communication is aurally. How does the
mother explain this unusual development? She related this to information she
had learned from a seminar she attended on autism years ago. It was explained
that many autistic children experience "sensory overload" there is
too much information coming in through their eyes and ears which they can't
process so the children just shut these systems down. Teachers were reported to
have more success if they focused just on visual input or auditory, not both.
Perhaps in her son's case, she theorized, he had experienced the same type of
overload. When he later lost his vision, the overload was reduced and perhaps
he was then able to "tune in" to his hearing. Interesting food for
thought.
B.
OCULAR DAMAGE
Glaucoma
with late onset was reported by Boger in 13 patients with CRS. The diagnosis was
first made when the patients were between 2 and 22 years of age. In 11 cases,
the eyes were microphalmic, 2 had eyes of normal size. All had cataractous
lenses either removed surgically or absorbed spontaneously. (4)
In
one study, almost 10% of patients with prior ocular damage developed additional
forms of eye damage as a delayed manifestation. Cataracts occur in 25% of those
infected between 25-93 days gestation.(4)
Cooper
stated that 50% of the time, cataracts are unilateral and associated with microphthalmia.
In 1969, he reported that while he had seen no patients with both cataracts and
glaucoma, they do not appear to be mutually exclusive in the same eye. (This is
not to be confused with the glaucoma that is secondary to a poor outcome of
cataract surgery.) (10)
Cataracts
Sixty-six percent (66%) of our respondents reported having
cataracts, with 57% indicating that these were congenital. Two cases of
cataracts were identified at age 7, one case at age 16 and one at age 18.
Several parents wanted to make sure that we include an alert to other parents
as to the increased risk of their
children developing- glaucoma as a result of cataract surgery. Late
onset glaucoma has also occurred in children who never had cataracts and in
those whose unilateral cataract was never operated on. Please be aware of this
and have your sons and daughters tested for glaucoma on a regular basis!
Detached
Retina
There
were 12 cases of detached retina (13%).
For those who reported an age of onset, there was one case diagnosed at
each of the following ages: 2, 8, 10, 12, 16, 17, 18, 19, and 39.
I
could not find any article which documented the incidence of detached retinas
in individuals with CRS or in the general population. However consider that 35
% of our cases were reported to engage in self-injurious behavior at least once
a week. Some of this behavior (head banging, eye poking) could undoubtedly
contribute to retinal detachment.
Glaucoma
Thirty
percent (30%) of our respondents were reported to have glaucoma. This rate of
occurrence is very hight, when compared to an incidence of 0.5% in the general
population. Our sruvey also asked whether particular medical conditions had
been tested for in the past year. Only 32% responded that they had been tested
for glaucoma in the past year. We strongly recommend that glaucoma testing
becomes part of the annual physical examination. This precaution should be
applied as well to CRS adults who are
deaf with no previous vision problems, as they have also been found to be developing
glaucoma at much higher rates than the general population. (12) Glaucoma
prevention is critical in order to try to maintain whatever vision an
individual has, particularly in light of additional handicapping conditions.
We
have had at least one report of glaucoma that is difficult to control by
medication. One parent described a
22-year old daughter (who had had nine eye operations since birth) whose
glaucoma was not responding to treatment.
C.
CARDIAC PROBLEMS
_____________________________________________________________________________________
Several studies cited the incidence of
heart problems in the CRS population:
“35-76% of rubella youth have heart disorders.
Patent Ductus occurs in up to 58%; Ventricular Septal Defect occurs in up to 18%.”
(1)
“Hypertension
can appear later on due to renal artery or aortic stenosis and may be
associated with further occlusions of damaged vessels…these vascular lesions
are potential causes of coronary, cerebral and peripheral vascular disease in
adults.” (4)
“Heart defects occur in 30% of children infected between 25
to 93 days of gestation.” (2)
“van
Dijk, citing Menser, Dodds and Harley, 1967, states that of the 50 high
functioning persons born with CRS in 1940, twenty-five years later, three were
found with systemic arterial hypertension.” (9)
________________________________________________________________________________________
Fifty-two
percent (52%) of our respondents indicated the presence of a heart condition.
Patent Ductus, Atrial or Ventricular Septal Defects and Pulmonary Stenosis were
the most common. In many situations, the
condition was coffected surgically in infancy. Twenty-eight out of 88
participants (32 %) answered affirmatively regarding whether or not cardiac
testing has been done in the past year.
Parents
did not have alot of concerns about heart problems until August of 1990, when
it was learned that one of our 39 initial participants passed away due to
congestive heart failure. In a low incidence population, such as ours, one case
like this could have serious implications. However, it was later determined
that this 26 year old male had had structural repair to his heart in
infancy. Although devastating to the
family, this was not a medically unexpected outcome for someone with a long
history of complicated cardiac disease.
Another
case which created interest was a female, now 28 years old, who was part of an
ongoing study on congenital heart defects conducted by
We
present these two isolated cases as a portrayal of the wide variety of medical
conditions and challenges being faced by this population. We are continuing to review this information
to try to identify trends and further areas for study.
D.
ENDOCRINE SYSTEMS
Diabetes
____________________________________________________________________________________________________
“Research in programs at the
“ The most frequent delayed manifestation of CRS is diabetes
mellitus. Studies reported by Menser, et al, of patients from the rubella
epidemic in 1941 in
“A high incidence of overt diabetes mellitus is seen among
patients with…(CRS)…who reach adolescence (10%) and an almost equal number of
young adults with stigmata of CRS show abnormal glucose tolerance responses.”
(2)
O’Dea and Mayhall cite Rayfield, Kelly and Yoon, (1986) “the
incidence of diabetes…in association with CRS has been reported to be between
12 and 20 percent.” (6)
Our
survey indicated 5.7 % (5 out of 88) of our participants are diabetic. The ages of onset were reported as follows:
Age of Onset # of Cases
2 1
5 1
14 1
24 1
Unknown 1
Although
our percentage is lower than those indicated in previous studies, it is
approximately twenty times higher than the incidence found in the general
population. (12) We must also consider that the bulk of the population in our
survey were in the 25-26 year old age range. The Australian study on diabetes
included patients up to 35 years old. It will be interesting to see what the
next 10 years brings to us here in the States.
In terms of testing, 16 out of 88 respondents (18%)
indicated that their son/daughter had been tested for diabetes in the past
year. We should keep in mind the symptoms of diabetes include excessive thirst,
frequent urination, rapid weight loss, nausea and vomiting.
Please note that several parents also mentioned that their
child's blood sugars fluctuate a great deal.
This has been observed by Fedun, as well, in her ongoing study of the
relationship of
diabetes and CRS. (12)
Thyroid
“Hypothyroidism, hyperthyroidism and thyroiditis have all
been reported as delayed manifestations of CRS…” Thyroid dysfunction has been identified
in 5% of patients with CRS in one study. (4)
“…thyroid disease has been relatively rare…” (10)
“Once again,
infection followed by an autoimmune response has been indicated as a possible
cause of thyroid disease.” (6)
E.
DEGENERATIVE CONDITIONS
This
section contains some of the most puzzling and disturbing descriptions of
changes occurring in individuals with CRS. The following comments written by
parents will give you a glimpse into the types of degenerative symptoms some
children are developing. The first case describes a 26 year old male.
'Over the past four years, (our
son) has gradually lost his ability to walk. In the past year, he cannot stand
by himself nor walk at all without totally leaning on another .... (He) was
always very hyper ... also very aggressive. He still butts his head quite often
and pinches if he is near us. We were recently told that (he) is on a down-hill
slide and will eventually lose all control, including muscles, swallowing,
etc...The doctor does not know another patient with (this) condition. The doctor advised us to remodel our house to
accommodate a wheelchair. Do you know how long a time between wheelchair and
bed? "
Another parent described her 24 year old daughter:
'... about six years ago (she was
18) things first changed. She had one seizure She became much more irritable,
broke lots of windows, would actually swing at people close to her, wasn't as
willing to do things she had always loved and was generally terrible. Her
tantrums were frequent, violent and long-lasting. This went on for 2 to 4 years
to some degree. About 2 years ago she calmed down some but in November all at
once she became very unsteady on her feet. I thought she may have had a
stroke.Her gait is much like that of an'individual with cerebral palsy. She looked 'drunk' all the time. She had a
great deal of trouble walking three feet without hanging onto something. She
appeared real confused over this change of events and began to really depend on
us to help her get from place to place. But the tantrum stopped.
At this point we had a CT Scan
done, took her off her Phenobarb, took her to a heart specialist,
otorhinolaryngologist, neurologist and just about everyone else we could think
of – no one knows what's going on. Recently I requested an MRI. That did show a
large 'scrambled egg' appearing thing. The report ruled out a brain tumor,
mentioned in passing and rejected MS so now we know there is something in/on
her brain but don't know what it means. They also don't know if it is something
'new' or has always been there. How I wish we had been able to have tests like
this when she was a baby.
Right now she has been “off
balance” for a year and a half. She has adapted her once springy gait to a wide
stance, is sometimes amused, sometimes frustrated over her new limitations
(above I observe from behavior and facial expressions - she can't tell me these
things) and does not seem to have regressed any more during the last year and a
half.'
A third mother provided this account of her daughter, now 26
years old:
'When (she) began her weight gain
in 1982, almost overnight after being so thin since birth, I felt we had a
problem. Along with this extreme weight gain, she began tantrums, etc. Also
(her) beautiful, smooth complexion turned to pimples and acne...(her back was
also like this). (Her) behavior became so aggressive, I could not handle her
(1986). With all the above, she developed facial and chin hairs, and cleavage
hairs. Hirsutism was diagnosed. Ever since 1982, there has been one thing and
then another. Diabetes -diagnosed 1988, losing control of (bowel) and bladder
(what appears to be aging faster on inside than outside), eyesight declining
due to congenital glaucoma, even though the medication is present, it doesn't
seem to be effective. On the other side of the coin, we have seen the most
miraculous advancement in (her) mental abilities.7his has been since 1988. It
is almost scary sometimes because she has these conversations with you that are
so 'adult' and completely normal. (She) talks with wisdom and great reasoning
abilities! "
During the course of this survey, I have spoken to many
parents and professional and listened to questions about these degenerative
processes. Often, the discussion would turn to a condition called Progressive
Rubella Panencephalitis (PRP). To gain additional knowledge on the condition, I
wrote to Dr. Jerry Wolinsky at the University of Texas Health Science Center in
-------------------------------------------------------------------------------------------------------------------------------------
“Progressive rubella panencephalitis (PRP) was recognized as a separate disease entity in 1975 when two groups described patients with slowly progressive neurologic deterioratoins…(PRP) is a rare disease with only about twelve known cases. Seven of these have been well documented; five are with the known stigmata of (CRS) and two with postnatally acquired rubella.” (2)